Novel TSHbeta subunit gene mutation causing congenital central hypothyroidism in a newborn male.

Abstract

Newborn screening programs that use only high TSH levels as a marker for hypothyroidism may overlook neonates with congenital hypothyroidism (CH) due to TSH deficiency. We sought the cause of TSH deficiency in a neonate with low levels of thyroxine and TSH. The coding region of the TSHbeta gene was amplified and its sequence examined for mutations. Two… (More)

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Cite this paper

@article{Morales2004NovelTS, title={Novel TSHbeta subunit gene mutation causing congenital central hypothyroidism in a newborn male.}, author={Alba E. Morales and Jing Shi and Cong Wang and Jin-Xiong She and Andrew Muir}, journal={Journal of pediatric endocrinology & metabolism : JPEM}, year={2004}, volume={17 3}, pages={355-9} }